ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4369A>G (p.Ile1457Val)

gnomAD frequency: 0.00002  dbSNP: rs747804357
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000703290 SCV000832186 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-12-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003140115 SCV003827533 uncertain significance not provided 2021-09-27 criteria provided, single submitter clinical testing

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